Results 101 to 110 of about 8,173 (220)

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Dorfman-Chanarin syndrome: A rare neutral lipid storage disease

Indian Journal of Pathology and Microbiology, 2010
Dorfman-Chanarin syndrome is a rare neutral lipid storage disorder characterized by ichthyosis, lipid vacuolations in peripheral leucocytes, and multisystem involvement. It is an autosomal recessive disorder caused by mutations in the CGI-58 gene.
Mitra Souvik, Samanta Moumita, Sarkar Mihir, Chatterjee Sukanta   +3 more
doaj  

Pathogenic Variants in the ABCA12 Gene Associated to Autosomal Recessive Congenital Ichthyosis: Report of an Attenuated Phenotype

European Medical Journal Dermatology
Congenital ichthyosis represents keratinisation disorders characterised by abnormal skin scaling across the entire body, leading to a red, denuded, and scaly appearance.
Gabriela Mantilla Beltrán, Ana María Navarro Pinilla, Diego Andrés Padilla Mantilla, Alfonso Suárez Camacho, Mónica Paola Novoa Candia   +4 more
doaj   +1 more source

Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings

Turkish Journal of Hematology, 2013
Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolism disorder associated with congenital ichthyosis and multi-system involvement.
Seçil Arslansoyu Çamlar, Pınar Gençpınar, Balahan Makay, Ayşe Yüzbaşıoğlu, Nur Arslan, Serap Emre Dökmeci, Özden Anal, Galip Köse   +7 more
doaj   +1 more source

Coexistence of T-Cell Lymphoblastic Lymphoma and Ichthyosis Vulgaris: A Case Report

Case Reports in Oncological Medicine
Ichthyosis vulgaris (IV) is an inherited disorder characterized by the scaling of the skin. It is caused by mutations in the filaggrin gene. IV is a reactive skin manifestation that may be associated with malignant hematological disease.
Şule Çalışkan Kamış, Begül Yağcı   +1 more
doaj   +1 more source

A case report of squamous cell carcinoma in ichthyosis hystrix Curth-Macklin

Turkderm Turkish Archives of Dermatology and Venereology
The Curth-Macklin type of ichthyosis hystrix is an extremely rare genodermatosis presenting as generalized or nevoid forms. Clinical expression varies in the time of onset and morphology, even within families, from painful palmoplantar keratoderma to a ...
Vishalakshi Pandit, Rakesh Yelhanka
doaj   +1 more source

CONGENITAL ICHTHYOSIS (CLINICAL CASE)

Медицина в Кузбассе, 2021
The word «ichthyosis» comes from the Greek root «ichthys», which means «fish», and is manifested by the characteristic peeling of the skin, resembling the scales of a fish. In patients with ichthyosis, the barrier function of the skin is impaired.
Ольга Борисовна Зарубина, Юлия Валерьевна Васютинская, Анна Николаевна Денисова, Наталья Викторовна Вахонина, Елена Владимировна Рудаева, Ольга Борисовна Карелина, Владимир Вячеславович Павленко, Сергей Валерьевич Рыбников, Вадим Гельевич Мозес, Светлана Ивановна Елгина   +9 more
doaj  

Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]

, 2007
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
core  

A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome

Journal of Pediatric Research, 2018
Typical features of Netherton syndrome are congenital ichthyosiform erythroderma, atopic diathesis and trichorrhexis nodosa. Here in this report, we present a case with congenital ichthyosis with atopy presenting later.
Fatma Derya Bulut, Deniz Kör, Berna Şeker Yılmaz, Mustafa Yılmaz, Derya Ufuk Altıntaş, Serdar Ceylaner, Sebile Kılavuz, Neslihan Önenli Mungan   +7 more
doaj   +1 more source

Соціальна адаптація хворих на іхтіоз: гендерні, вікові та спадкові особливості [PDF]

, 2015
Представлено результати вивчення особливостей соціальної адаптації хворих на іхтіоз Подільського регіону відносно гендерних, вікових та спадкових особливостей.
Дмитренко, С.В.
core